Mutagenetix > Incidental Mutation

Incidental Mutation 'R4533:Crtc3'

333199

Institutional Source

Beutler Lab

Gene Symbol

Crtc3

Ensembl Gene

ENSMUSG00000030527

Gene Name

CREB regulated transcription coactivator 3

Synonyms

6332415K15Rik, 2610312F20Rik

MMRRC Submission

041773-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.238) question?

Stock #

R4533 (G1)

Quality Score

197

Status

Validated

Chromosome

Chromosomal Location

80236375-80338625 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80239543 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 603 (M603K)

Ref Sequence

ENSEMBL: ENSMUSP00000113540 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000122255]

AlphaFold

Q91X84

Predicted Effect

probably damaging
Transcript: ENSMUST00000122255
AA Change: M603K

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000113540
Gene: ENSMUSG00000030527
AA Change: M603K

Domain	Start	End	E-Value	Type
Pfam:TORC_N	11	82	1.2e-20	PFAM
Pfam:TORC_M	159	321	1.9e-64	PFAM
low complexity region	366	380	N/A	INTRINSIC
low complexity region	438	480	N/A	INTRINSIC
Pfam:TORC_C	545	619	2.2e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149176

Meta Mutation Damage Score

0.2094

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (54/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the CREB regulated transcription coactivator gene family. This family regulates CREB-dependent gene transcription in a phosphorylation-independent manner and may be selective for cAMP-responsive genes. The protein encoded by this gene may induce mitochondrial biogenesis and attenuate catecholamine signaling in adipose tissue. A translocation event between this gene and Notch coactivator mastermind-like gene 2, which results in a fusion protein, has been reported in mucoepidermoid carcinomas. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a null mutation display resistance to diet-induced obesity, increased energy expenditure, decreased white adipose tissue mass, increased brown adipose cell numbers, and increased core temperature. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	A	G	9: 90,062,761 (GRCm39)	Y405C	probably damaging	Het
Ago3	A	T	4: 126,239,356 (GRCm39)	S832T	probably damaging	Het
Akap9	T	A	5: 4,093,948 (GRCm39)	F2157I	probably damaging	Het
Anapc5	T	C	5: 122,929,798 (GRCm39)	E561G	possibly damaging	Het
Art5	T	C	7: 101,747,545 (GRCm39)	H78R	probably benign	Het
Blvra	T	A	2: 126,932,304 (GRCm39)		probably null	Het
Ccdc171	A	G	4: 83,575,579 (GRCm39)	T488A	possibly damaging	Het
Csmd1	T	C	8: 15,981,037 (GRCm39)		probably null	Het
Dbh	C	A	2: 27,067,343 (GRCm39)	H409Q	possibly damaging	Het
Gm12185	T	C	11: 48,798,747 (GRCm39)	Y582C	probably damaging	Het
Gm12185	T	C	11: 48,798,921 (GRCm39)	N524S	possibly damaging	Het
Gm7356	A	C	17: 14,221,672 (GRCm39)	I119R	probably damaging	Het
Heatr1	T	A	13: 12,449,392 (GRCm39)	D1963E	probably benign	Het
Ighv1-37	A	T	12: 114,860,147 (GRCm39)	V21D	probably damaging	Het
Itga3	T	G	11: 94,948,119 (GRCm39)	Q602P	probably benign	Het
Kcmf1	G	A	6: 72,826,574 (GRCm39)	R152C	probably damaging	Het
Lin54	T	C	5: 100,633,262 (GRCm39)	I141V	possibly damaging	Het
Mast1	T	A	8: 85,647,990 (GRCm39)	H497L	probably damaging	Het
Mrpl44	T	C	1: 79,753,971 (GRCm39)	F41S	possibly damaging	Het
Myo18b	T	C	5: 112,840,891 (GRCm39)	R2301G	probably damaging	Het
Nek1	A	T	8: 61,460,247 (GRCm39)	M58L	possibly damaging	Het
Or4k15c	T	C	14: 50,321,156 (GRCm39)		probably null	Het
Orc4	G	A	2: 48,827,501 (GRCm39)	P31S	probably benign	Het
P3h3	A	G	6: 124,831,371 (GRCm39)	V338A	possibly damaging	Het
Pabir3	G	A	X: 52,382,376 (GRCm39)	R94H	possibly damaging	Het
Pcdha7	T	C	18: 37,108,460 (GRCm39)	V495A	possibly damaging	Het
Plcb3	T	C	19: 6,933,640 (GRCm39)	E895G	probably benign	Het
Plekha5	A	G	6: 140,516,057 (GRCm39)	E770G	probably damaging	Het
Ptchd3	C	T	11: 121,727,257 (GRCm39)	S377F	probably damaging	Het
Ptprj	C	T	2: 90,270,299 (GRCm39)	D1266N	probably damaging	Het
Raly	A	T	2: 154,707,853 (GRCm39)	E291V	probably damaging	Het
Rnf217	C	A	10: 31,484,759 (GRCm39)	C141F	possibly damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Slc12a3	A	G	8: 95,083,714 (GRCm39)	M914V	probably null	Het
Tbc1d9	A	G	8: 83,997,547 (GRCm39)	T1035A	probably damaging	Het
Tex14	C	T	11: 87,427,655 (GRCm39)	R36*	probably null	Het
Tiparp	A	G	3: 65,453,768 (GRCm39)	D172G	probably benign	Het
Ttc3	T	A	16: 94,267,736 (GRCm39)		probably benign	Het
Uap1	A	T	1: 169,970,994 (GRCm39)	I466N	probably damaging	Het
Ubr1	T	C	2: 120,772,963 (GRCm39)	T426A	possibly damaging	Het
Vmn1r77	T	A	7: 11,775,756 (GRCm39)	H177Q	probably benign	Het
Vmn2r72	T	A	7: 85,401,134 (GRCm39)	H95L	probably benign	Het
Vwc2l	G	A	1: 70,921,298 (GRCm39)	C151Y	probably damaging	Het
Wdr12	T	C	1: 60,117,354 (GRCm39)	Y414C	probably benign	Het
Zfp609	A	C	9: 65,610,890 (GRCm39)	V691G	probably benign	Het
Zmiz1	T	C	14: 25,646,084 (GRCm39)	Y254H	probably damaging	Het

Other mutations in Crtc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01087:Crtc3	APN	7	80,248,487 (GRCm39)	intron	probably benign
IGL01325:Crtc3	APN	7	80,327,116 (GRCm39)	missense	probably damaging	0.96
IGL01802:Crtc3	APN	7	80,254,116 (GRCm39)	nonsense	probably null
IGL02166:Crtc3	APN	7	80,327,147 (GRCm39)	missense	probably damaging	1.00
IGL02601:Crtc3	APN	7	80,242,315 (GRCm39)	missense	probably damaging	1.00
IGL02719:Crtc3	APN	7	80,268,406 (GRCm39)	critical splice acceptor site	probably null
IGL02936:Crtc3	APN	7	80,239,511 (GRCm39)	missense	probably damaging	1.00
IGL03075:Crtc3	APN	7	80,254,151 (GRCm39)	intron	probably benign
R0856:Crtc3	UTSW	7	80,245,372 (GRCm39)	missense	probably damaging	0.99
R1655:Crtc3	UTSW	7	80,248,524 (GRCm39)	missense	possibly damaging	0.67
R1962:Crtc3	UTSW	7	80,239,679 (GRCm39)	missense	probably damaging	1.00
R4484:Crtc3	UTSW	7	80,239,696 (GRCm39)	missense	probably damaging	1.00
R4818:Crtc3	UTSW	7	80,327,170 (GRCm39)	missense	possibly damaging	0.65
R5292:Crtc3	UTSW	7	80,268,358 (GRCm39)	missense	possibly damaging	0.94
R5908:Crtc3	UTSW	7	80,245,542 (GRCm39)	missense	possibly damaging	0.54
R8991:Crtc3	UTSW	7	80,327,191 (GRCm39)	missense	probably damaging	0.96
R9092:Crtc3	UTSW	7	80,239,628 (GRCm39)	missense	probably benign
R9121:Crtc3	UTSW	7	80,242,323 (GRCm39)	missense	probably damaging	1.00
R9170:Crtc3	UTSW	7	80,248,697 (GRCm39)	missense	probably damaging	0.99
R9321:Crtc3	UTSW	7	80,259,650 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TGCTGTAACCACCGTCAAG -3'
(R):5'- TTTAAAAGCCTTGGTCCTCCTG -3'

Sequencing Primer
(F):5'- CCGTCAAGGTGTTTGCTGGC -3'
(R):5'- GGTCCTCCTGTCTCCAAATTTC -3'

Posted On

2015-08-18